Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene
Jazyk angličtina Země Spojené státy americké Médium print
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
Wellcome Trust - United Kingdom
PubMed
16303937
DOI
10.1167/iovs.05-0269
PII: 46/12/4480
Knihovny.cz E-zdroje
- MeSH
- dědičné dystrofie rohovky epidemiologie genetika patologie MeSH
- Descemetova membrána patologie MeSH
- genetické markery MeSH
- homeodoménové proteiny genetika MeSH
- lidé MeSH
- lidské chromozomy, pár 20 genetika MeSH
- Lod skóre MeSH
- lokus kvantitativního znaku MeSH
- mapování chromozomů * MeSH
- oční proteiny genetika MeSH
- rodokmen MeSH
- rohovkový endotel patologie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika epidemiologie MeSH
- Názvy látek
- genetické markery MeSH
- homeodoménové proteiny MeSH
- oční proteiny MeSH
- VSX1 protein, human MeSH Prohlížeč
PURPOSE: Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder, affecting both the corneal endothelium and Descemet's membrane. In the Czech Republic, PPCD is one of the most prevalent corneal dystrophies. The purpose of this study was to determine the chromosomal locus of PPCD in two large Czech families, by using linkage analysis. METHODS: Linkage analysis was performed on 52 members of two Czech families with PPCD and polymorphic microsatellite markers and lod scores were calculated. The candidate gene VSX1 was also screened for mutations. RESULTS: Significant lod scores were obtained with microsatellite markers on chromosome 20. Linkage analysis delineated the Czech PPCD locus to a 2.7-cM locus on chromosome 20, region p11.2, between flanking markers D20S48 and D20S139, which excluded VSX1 as the disease-causing gene in both families. In addition, the exclusion of VSX1 was confirmed by sequence analysis. CONCLUSIONS: This study reports the localization of PPCD in patients of Czech origin to chromosome 20 at p11.2. Linkage data and sequence analysis exclude VSX1 as causative of PPCD in two Czech families. This refined locus for PPCD overlaps the congenital hereditary endothelial dystrophy (CHED1) disease interval, and it is possible that these corneal dystrophies are allelic.
Citace poskytuje Crossref.org
CUGC for posterior polymorphous corneal dystrophy (PPCD)
